<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>2301-1254</journal-id>
<journal-title><![CDATA[Anales de la Facultad de Medicina]]></journal-title>
<abbrev-journal-title><![CDATA[Anfamed]]></abbrev-journal-title>
<issn>2301-1254</issn>
<publisher>
<publisher-name><![CDATA[Universidad de la República. Facultad de Medicina]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2301-12542018000200012</article-id>
<article-id pub-id-type="doi">10.25184/anfamed2018v5n2a10</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Genoma Humano. Aspectos estructurales]]></article-title>
<article-title xml:lang="pt"><![CDATA[Genoma Humano. Aspectos estruturais]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lamolle]]></surname>
<given-names><![CDATA[Guillermo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Musto]]></surname>
<given-names><![CDATA[Héctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Facultad de Ciencias Unidad de Genómica Evolutiva Laboratorio de Organización y Evolución del Genoma]]></institution>
<addr-line><![CDATA[Montevideo ]]></addr-line>
<country>Uruguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<volume>5</volume>
<numero>2</numero>
<fpage>12</fpage>
<lpage>28</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_arttext&amp;pid=S2301-12542018000200012&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_abstract&amp;pid=S2301-12542018000200012&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.edu.uy/scielo.php?script=sci_pdf&amp;pid=S2301-12542018000200012&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: El genoma humano, como el de todos los mamíferos y aves, es un mosaico de isocoros, los que son regiones muy largas de ADN (&gt;&gt;100 kb) que son homogéneas en cuanto a su composición de bases. Los isocoros pueden ser divididos en un pequeño número de familias que cubren un amplio rango de niveles de GC (GC es la relación molar de guanina+citosina en el ADN). En el genoma humano encontramos cinco familias, que (yendo de valores bajos a altos de GC) son L1, L2, H1, H2 y H3. Este tipo de organización tiene importantes consecuencias funcionales, tales como la diferente concentración de genes, su regulación, niveles de transcripción, tasas de recombinación, tiempo de replicación, etc. Además, la existencia de los isocoros lleva a las llamadas &#8220;correlaciones composicionales&#8221;, lo que significa que en la medida en que diferentes secuencias están localizadas en diferentes isocoros, todas sus regiones (exones y sus tres posiciones de los codones, intrones, etc.) cambian su contenido en GC, y como consecuencia, cambian tanto el uso de aminoácidos como de codones sinónimos en cada familia de isocoros. Finalmente, discutimos el origen de estas estructuras en un marco evolutivo.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: The human genome, as the genome of all mammals and birds, are mosaic of isochores, which are very long streches (&gt;&gt; 100 kb) of DNA that are homogeneous in base composition. Isochores can be divided in a small number of families that cover a broad range of GC levels (GC is the molar ratio of guanine+cytosine in DNA). In the human genome, we find five families, which are (going from GC- poor to GC- rich) L1, L2, H1, H2 and H3. This organization has important consequences, as is the case of the concentration of genes, their regulation, transcription levels, rate of recombination, time of replication, etc. Furthermore, the existence of isochores has as a consequence the so called &#8220;compositional correlations&#8221;, which means that as long as sequences are placed in different families of isochores, all of their regions (exons and their three codon positions, introns, etc.) change their GC content, and as a consequence, both codon and amino acids usage change in each isochore family. Finally, we discuss the origin of isochores within an evolutioary framework.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo: O genoma humano, como todos os mamíferos e aves, é um mosaico de isocóricas, que são muito longas regiões de ADN (&gt;&gt; 100 kb) que são homogéneos na sua composição de base. Isóquos podem ser divididos em um pequeno número de famílias que cobrem uma ampla gama de níveis de GC (GC é a razão molar de guanina + citosina no DNA). No genoma humano, encontramos cinco famílias, que (variando de valores baixos a altos de GC) são L1, L2, H1, H2 e H3. Este tipo de organização tem importantes conseqüências funcionais, como a diferente concentração de genes, sua regulação, níveis de transcrição, taxas de recombinação, tempo de replicação, etc. Além disso, a existência de isocóricas portada chamado &#8220;correlações de composição&#8221;, o que significa que, na medida em que diferentes sequências estão localizados em diferentes isocóricas, todas as regiões (exs e três posições de codões, intrs, etc.) mudam seu conteúdo em GC e, como consequência, alteram tanto o uso de aminoácidos quanto de códons sinônimos em cada família de isócoros. Finalmente, discutimos a origem dessas estruturas em uma estrutura evolucionária.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[genoma humano]]></kwd>
<kwd lng="es"><![CDATA[isocoros]]></kwd>
<kwd lng="es"><![CDATA[correlaciones composicionales]]></kwd>
<kwd lng="es"><![CDATA[contenido en GC]]></kwd>
<kwd lng="es"><![CDATA[evolución]]></kwd>
<kwd lng="en"><![CDATA[Human Genome]]></kwd>
<kwd lng="en"><![CDATA[Isochores]]></kwd>
<kwd lng="en"><![CDATA[Compositional Correlations]]></kwd>
<kwd lng="en"><![CDATA[GC Content]]></kwd>
<kwd lng="en"><![CDATA[Evolution]]></kwd>
<kwd lng="pt"><![CDATA[genoma humano]]></kwd>
<kwd lng="pt"><![CDATA[isocoros]]></kwd>
<kwd lng="pt"><![CDATA[correlações composicionais]]></kwd>
<kwd lng="pt"><![CDATA[conteúdo em GC]]></kwd>
<kwd lng="pt"><![CDATA[evolução]]></kwd>
</kwd-group>
</article-meta>
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